Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease.

Literature DB >> 3989826

Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease.

S Ohdo, H Madokoro, T Sonoda, T Nishiguchi, K Kawaguchi, K Hayakawa.

Abstract

Kabuki make-up syndrome has been reported mainly among Japanese, so far occurring in more than 20 cases. Among these, however, only one case associated with congenital heart defect has been reported. We have treated three patients with this syndrome and of these two had congenital heart disease. We suggest the possibility that the association of congenital heart disease with Kabuki make-up syndrome may not be fortuitous.

Entities: Disease Species

Mesh：

Year: 1985 PMID： 3989826 PMCID： PMC1049396 DOI： 10.1136/jmg.22.2.126

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

2 in total

1. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation.

Authors: Y Kuroki; Y Suzuki; H Chyo; A Hata; I Matsui
Journal: J Pediatr Date: 1981-10 Impact factor: 4.406

2. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.

Authors: N Niikawa; N Matsuura; Y Fukushima; T Ohsawa; T Kajii
Journal: J Pediatr Date: 1981-10 Impact factor: 4.406

2 in total

6 in total

1. A novel constellation of cardiac findings for Kabuki syndrome: hypoplastic left heart syndrome and partial anomalous pulmonary venous drainage.

Authors: Raveen Shahdadpuri; Sally Ann Lynch; H Murchan; Colin J McMahon
Journal: Pediatr Cardiol Date: 2008-02-19 Impact factor: 1.655

Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease.

1. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation.

2. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.

1. A novel constellation of cardiac findings for Kabuki syndrome: hypoplastic left heart syndrome and partial anomalous pulmonary venous drainage.

2. Case report: autistic disorder in Kabuki syndrome.

3. The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.

4. Hypoplastic left heart syndrome in patients with Kabuki syndrome.

5. Coarctation of the aorta in Kabuki syndrome.

6. Kabuki make-up (Niikawa-Kuroki) syndrome: clinical and radiological observations in two Sicilian children.